Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;14) (pter;q11.2)]

American Journal of Medical Genetics

Volumn 102, Issue 1, 2001, Pages 29-35

  Zannolli, R ^a,c   Mostardini, R ^a   Pucci, L ^a   Sorrentino, L ^a   Biagioli, M ^b   Perotti, R ^a   Guarna, M ^a   Hadjistilianou, T ^a   Zerega, G ^a   Pierluigi, M ^a   Franco, B ^b   D'Ambrosio, A ^a,b   Morgese, G ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b GALLIERA HOSPITAL   (Italy)

^c TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

Author keywords

Chromosome 14; Corpus callosum agenesis; Neuroectodermal disorder

Indexed keywords

DNA;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 14; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CORPUS CALLOSUM AGENESIS; CYST; ELECTRON MICROSCOPY; EYE MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE MUTATION; HAMARTOMA; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; PARTIAL MONOSOMY; PHENOTYPE; PRIORITY JOURNAL; SKIN DEFECT;

ABNORMALITIES, MULTIPLE; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 5; CORPUS CALLOSUM; CYSTS; CYTOGENETIC ANALYSIS; DIAGNOSIS, DIFFERENTIAL; EYE ABNORMALITIES; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MUTATION; SKIN; SKIN ABNORMALITIES; TRANSLOCATION, GENETIC;

EID: 0035934011     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20010722)102:1<29::AID-AJMG1367>3.0.CO;2-8     Document Type: Article

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